Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

2013-8-29

Walking the Interactome for Prioritization of Candidate Disease Genes

通过相互作用组步行法优先筛选候选疾病基因

2008-4-1

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

FBXL4突变导致线粒体脑病及线粒体DNA维持障碍

2013-8-29

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

NCKAP1破坏性变异导致具有自闭症核心特征的神经发育障碍

2020-11-1

Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

骨发育不良硬化性发育不良是由于SOST基因产物缺失所致，SOST基因产物是一种新型含胱氨酸结蛋白

2001-3-1

Monoallelic pathogenic variants in LEPR do not cause obesity

LEPR基因单等位致病变异不会导致肥胖

2024-11-1

The PRIMED Consortium: Reducing disparities in polygenic risk assessment

PRIMED联盟：减少多基因风险评估中的差异

2024-11-1

Proteome-wide Mendelian randomization and functional studies uncover therapeutic targets for polycystic ovarian syndrome

蛋白质组范围的孟德尔随机化与功能研究揭示多囊卵巢综合征的治疗靶点

2024-11-1

Toward trustable use of machine learning models of variant effects in the clinic

迈向临床中可信使用变异效应机器学习模型

2024-11-1

Allele frequency impacts the cross-ancestry portability of gene expression prediction in lymphoblastoid cell lines

等位基因频率影响淋巴母细胞系中基因表达预测的跨祖先可移植性

2024-11-1